Canonical Allele Identifier: CA1104477009

Gene: PEX1

Linked Data

• dbSNP Id: rs769516058
• gnomAD v3: 7-92518116-C-A
• gnomAD v4: 7-92518116-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92518116C>A , CM000669.2:g.92518116C>A	GRCh38
NC_000007.13:g.92147430C>A , CM000669.1:g.92147430C>A	GRCh37
NC_000007.12:g.91985366C>A	NCBI36
NG_008341.1:g.15416G>T
NG_008341.2:g.15416G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.472+25G>T MANE Select	ENSP00000248633.4:n.472+25G>T
ENST00000248633.8:c.472+25G>T	ENSP00000248633.4:n.472+25G>T
ENST00000428214.5:c.472+25G>T	ENSP00000394413.1:n.472+25G>T
ENST00000438045.5:c.273+3986G>T	ENSP00000410438.1:n.273+3986G>T
ENST00000484913.5:n.511+25G>T
NM_000466.2:c.472+25G>T	NP_000457.1:n.472+25G>T
NM_001282677.1:c.472+25G>T	NP_001269606.1:n.472+25G>T
NM_001282678.1:c.-153+25G>T	NP_001269607.1:n.-153+25G>T
XR_242246.3:n.568+25G>T
XR_242246.5:n.519+25G>T
NM_000466.3:c.472+25G>T MANE Select	NP_000457.1:n.472+25G>T
NM_001282677.2:c.472+25G>T	NP_001269606.1:n.472+25G>T
NM_001282678.2:c.-153+25G>T	NP_001269607.1:n.-153+25G>T